disease has basis in dysfunction of OFD1 orofaciodigital syndrome I DOID:0060316 GARD:0004121 ICD10:Q87.0 MESH:C537134 MONDO:0010702 NCIT:C75481 OFD syndrome 1 OFD1 OFDI OFDS 1 OFDSI OMIM:311200 Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Orphanet:2750 Papillon-Leage and Psaume syndrome Papillon-Leage-Psaume syndrome Papillon-Léage-Psaume syndrome Papillon-league-Psaume syndrome (formerly) SCTID:763833006 UMLS:C1510460 UMLS:C2698658 oral facial digital syndrome 1 oral facial digital syndrome type 1 oral-facial-digital syndrome 1 oral-facial-digital syndrome type 1 oral-facial-digital syndrome, type 1 orofaciodigital syndrome 1 orofaciodigital syndrome I orofaciodigital syndrome type 1 orofaciodigital syndrome type I orofaciodigital syndrome syndromic urogenital tract malformation ectodermal dysplasia syndrome syndromic genetic deafness syndromic renal or urinary tract malformation X-linked syndromic intellectual disability polycystic kidney disease X-linked deafness genetic sebaceous gland anomaly nephropathy-associated ciliopathy